Found: 63
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Cerebellar hypoplasia in a patient with velo-cardio-facial syndrome.
- Published in:
- 1996
- By:
- Publication type:
- journal article
Verwekt door de Tweede Wereldoorlog - Oorlogskinderen op de as Brussel-Berlijn. Voorspel - Geboorte - Onthaal.
- Published in:
- 2016
- By:
- Publication type:
- Abstract
Ocular findings in children with a microdeletion in chromosome 22q11.2.
- Published in:
- 2008
- By:
- Publication type:
- journal article
Velocardiofacial syndrome presenting as distal arthrogryposis.
- Published in:
- 2004
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- Publication type:
- journal article
Deep Phenotyping of Development, Communication and Behaviour in Phelan-McDermid Syndrome.
- Published in:
- 2019
- By:
- Publication type:
- Abstract
Deletion in chromosome region 22q11 in a child with CHARGE association.
- Published in:
- Clinical Genetics, 1998, v. 53, n. 5, p. 408, doi. 10.1111/j.1399-0004.1998.tb02755.x
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- Publication type:
- Article
The Coffin-Siris syndrome: data on mental development, language, behavior and social skills in 12 children.
- Published in:
- Clinical Genetics, 1995, v. 48, n. 4, p. 177, doi. 10.1111/j.1399-0004.1995.tb04084.x
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- Publication type:
- Article
Behaviour and physiology shape the growth accelerations associated with predation risk, high temperatures and southern latitudes in Ischnura damselfly larvae.
- Published in:
- Journal of Animal Ecology, 2012, v. 81, n. 5, p. 1034, doi. 10.1111/j.1365-2656.2012.01987.x
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- Publication type:
- Article
Distribution of Aedes albopictus (Diptera, Culicidae) in southwestern Pacific countries, with a first report from the Kingdom of Tonga.
- Published in:
- Parasites & Vectors, 2012, v. 5, n. 1, p. 247, doi. 10.1186/1756-3305-5-247
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- Publication type:
- Article
VEGF: A modifier of the del22q11 (DiGeorge) syndrome?
- Published in:
- Nature Medicine, 2003, v. 9, n. 2, p. 173, doi. 10.1038/nm819
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- Publication type:
- Article
A Comprehensive Craniofacial Study of 22q11.2 Deletion Syndrome.
- Published in:
- 2017
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- Publication type:
- journal article
Developmental course of conversational behaviour of children with 22q11.2 deletion syndrome and Williams syndrome.
- Published in:
- First Language, 2017, v. 37, n. 6, p. 583, doi. 10.1177/0142723717713890
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- Publication type:
- Article
Developmental trajectories in 22q11.2 deletion syndrome.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2015, v. 169C, n. 2, p. 172, doi. 10.1002/ajmg.c.31435
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- Publication type:
- Article
Triplications of chromosome 1p36.3, including the genes GABRD and SKI, are associated with a developmental disorder and a facial gestalt.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1889, doi. 10.1002/ajmg.a.63222
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- Publication type:
- Article
Cross‐sectional and longitudinal findings in patients with proximal 22q11.2 duplication: A retrospective chart study.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 46, doi. 10.1002/ajmg.a.62487
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- Publication type:
- Article
Vestibular dysfunction is a manifestation of 22q11.2 deletion syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 3, p. 448, doi. 10.1002/ajmg.a.7
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- Publication type:
- Article
Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 10, p. 2172, doi. 10.1002/ajmg.a.40359
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- Publication type:
- Article
Neurodevelopmental outcome in 22q11.2 deletion syndrome and management.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 10, p. 2160, doi. 10.1002/ajmg.a.38709
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- Publication type:
- Article
High prevalence of fatigue in adults with a 22q11.2 deletion syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 858, doi. 10.1002/ajmg.a.38094
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- Publication type:
- Article
Malformations of the middle and inner ear on CT imaging in 22q11 deletion syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2975, doi. 10.1002/ajmg.a.37872
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- Publication type:
- Article
Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2781, doi. 10.1002/ajmg.a.35512
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- Publication type:
- Article
Polyhydramnios as a prenatal symptom of the DiGeorge/velo-cardio-facial syndrome.
- Published in:
- Prenatal Diagnosis, 1998, v. 18, n. 1, p. 68, doi. 10.1002/(SICI)1097-0223(199801)18:1<68::AID-PD211>3.0.CO;2-I
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- Publication type:
- Article
Evolution of carbaryl resistance in the water flea Daphnia: complex interactions between inbreeding, stress, and selection.
- Published in:
- Hydrobiologia, 2015, v. 743, n. 1, p. 199, doi. 10.1007/s10750-014-2037-8
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- Publication type:
- Article
Drivers of population genetic differentiation in the wild: isolation by dispersal limitation, isolation by adaptation and isolation by colonization.
- Published in:
- Molecular Ecology, 2013, v. 22, n. 24, p. 5983, doi. 10.1111/mec.12561
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- Publication type:
- Article
Resilience and quality of life in young adults with a 22q11.2 deletion syndrome: a patient's perspective.
- Published in:
- European Child & Adolescent Psychiatry, 2022, v. 31, n. 12, p. 1885, doi. 10.1007/s00787-021-01822-6
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- Publication type:
- Article
Motor development in school-aged children with 22q11 deletion (velocardiofacial/DiGeorge syndrome)
- Published in:
- 2007
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- Publication type:
- Journal Article
Motor development in school-aged children with 22q11 deletion (velocardiofacial/DiGeorge syndrome).
- Published in:
- Developmental Medicine & Child Neurology, 2007, v. 49, n. 3, p. 210, doi. 10.1111/j.1469-8749.2007.00210.x
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- Publication type:
- Article
Early motor development in young children with 22q.11 deletion syndrome and a conotruncal heart defect.
- Published in:
- Developmental Medicine & Child Neurology, 2005, v. 47, n. 12, p. 797, doi. 10.1017/S0012162205001696
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- Publication type:
- Article
Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome.
- Published in:
- Human Genetics, 2016, v. 135, n. 3, p. 273, doi. 10.1007/s00439-015-1623-9
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- Publication type:
- Article
Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS.
- Published in:
- NPJ Genomic Medicine, 2023, v. 8, n. 1, p. 1, doi. 10.1038/s41525-023-00363-y
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- Publication type:
- Article
Prader-Willi syndrome: new insights in the behavioural and psychiatric spectrum.
- Published in:
- 2002
- By:
- Publication type:
- Journal Article
Prader–Willi syndrome: new insights in the behavioural and psychiatric spectrum.
- Published in:
- Journal of Intellectual Disability Research, 2002, v. 46, n. 1, p. 41, doi. 10.1046/j.1365-2788.2002.00354.x
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- Publication type:
- Article
Affective and psychotic reactivity to daily-life stress in adults with 22q11DS: a study using the experience sampling method.
- Published in:
- Journal of Neurodevelopmental Disorders, 2020, v. 12, n. 1, p. 1, doi. 10.1186/s11689-020-09333-2
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- Publication type:
- Article
No evidence for a parental inversion polymorphism predisposing to rearrangements at 22q11.2 in the DiGeorge/Velocardiofacial syndrome.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 2, p. 109, doi. 10.1038/sj.ejhg.5200930
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- Publication type:
- Article
COMT Val<sup>158</sup>met genotype and striatal D<sub>2/3</sub> receptor binding in adults with 22q11 deletion syndrome.
- Published in:
- Synapse, 2011, v. 65, n. 9, p. 967, doi. 10.1002/syn.20932
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- Publication type:
- Article
Cognitive deficits in childhood, adolescence and adulthood in 22q11.2 deletion syndrome and association with psychopathology.
- Published in:
- Translational Psychiatry, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41398-020-0736-7
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- Publication type:
- Article
Numerical magnitude processing impairments in genetic syndromes: a cross-syndrome comparison of Turner and 22q11.2 deletion syndromes.
- Published in:
- Developmental Science, 2017, v. 20, n. 6, p. n/a, doi. 10.1111/desc.12458
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- Publication type:
- Article
Neurodevelopmental profile and stages of regression in Phelan–McDermid syndrome.
- Published in:
- Developmental Medicine & Child Neurology, 2023, v. 65, n. 7, p. 917, doi. 10.1111/dmcn.15482
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- Publication type:
- Article
Atypical chromosome 22q11.2 deletions are complex rearrangements and have different mechanistic origins.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 22, p. 3724, doi. 10.1093/hmg/ddz166
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- Publication type:
- Article
Morphological and physiological sexual selection targets in a territorial damselfly.
- Published in:
- Ecological Entomology, 2009, v. 34, n. 6, p. 677, doi. 10.1111/j.1365-2311.2009.01114.x
- By:
- Publication type:
- Article
Prevalence and Nature of Hearing Loss in 22q11.2 Deletion Syndrome.
- Published in:
- Journal of Speech, Language & Hearing Research, 2016, v. 59, n. 3, p. 583, doi. 10.1044/2015_JSLHR-H-15-0098
- By:
- Publication type:
- Article
Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/digeorge/22q11.2 deletion syndrome patients.
- Published in:
- Human Mutation, 2011, v. 32, n. 11, p. 1278, doi. 10.1002/humu.21568
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- Publication type:
- Article
Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 1, p. 83, doi. 10.1093/hmg/ddl443
- By:
- Publication type:
- Article
Language Profiles of School-Aged Children with 22q11.2 Copy Number Variants.
- Published in:
- Genes, 2023, v. 14, n. 3, p. 679, doi. 10.3390/genes14030679
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- Publication type:
- Article
Gathering the Stakeholder's Perspective: Experiences and Opportunities in Rare Genetic Disease Research.
- Published in:
- Genes, 2023, v. 14, n. 1, p. 169, doi. 10.3390/genes14010169
- By:
- Publication type:
- Article
Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions.
- Published in:
- Genes, 2023, v. 14, n. 1, p. 160, doi. 10.3390/genes14010160
- By:
- Publication type:
- Article
Influence of Parent-of-Origin on Intellectual Outcomes in the Chromosome 22q11.2 Deletion Syndrome.
- Published in:
- Genes, 2022, v. 13, n. 10, p. N.PAG, doi. 10.3390/genes13101800
- By:
- Publication type:
- Article
Parent-Reported Social-Communicative Skills of Children with 22q11.2 Copy Number Variants and Siblings.
- Published in:
- Genes, 2022, v. 13, n. 10, p. N.PAG, doi. 10.3390/genes13101801
- By:
- Publication type:
- Article
Laterality Preference and Cognition: Cross-Syndrome Comparison of Patients with Trisomy 21 (Down), del7q11.23 (Williams-Beuren) and del22q11.2 (DiGeorge or Velo-Cardio-Facial) Syndromes.
- Published in:
- Behavior Genetics, 2011, v. 41, n. 3, p. 413, doi. 10.1007/s10519-011-9465-2
- By:
- Publication type:
- Article
Inbreeding and adaptive plasticity: an experimental analysis on predator-induced responses in the water flea Daphnia.
- Published in:
- Ecology & Evolution (20457758), 2015, v. 5, n. 13, p. 2712, doi. 10.1002/ece3.1545
- By:
- Publication type:
- Article